Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: The MEDPED Slovakia Project

Branislav Vohnout, Katarína Rašlová, Juraj Gašparovič, Jana Franeková, Lubomíra Fábryová, Martina Belošovičová, Gustáv Kováč, Claudia Šebová, Eva Rajecová, Jozef Stavný, Miron Babjak, Maria B. Donati, Licia Iacoviello

Research output: Contribution to journalArticle

Abstract

We examined, from a cohort of 165 families, 529 individuals for familial hypercholesterolemia (FH). Utilising clinical criteria for diagnosis, we identified 122 patients (n=41 families) as having FH. With PCR testing, 31 individuals (n=12 families) were found to have familial defective Apo B-100 (FDB). From the cohort, 102 normolipidemic (NL) individuals served as a control group. Patients with FH had the highest levels of total cholesterol (TC), LDL-cholesterol (LDL-C) and apolipoprotein B (Apo B), followed by FDB patients and the normolipidemic relatives had the lowest levels (P

Original languageEnglish
Pages (from-to)3-5
Number of pages3
JournalAtherosclerosis Supplements
Volume4
Issue number3
DOIs
Publication statusPublished - Nov 2003

Keywords

  • Apo E
  • Familial defective Apo B-100
  • Familial hypercholesterolemia
  • Polymorphism

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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    Vohnout, B., Rašlová, K., Gašparovič, J., Franeková, J., Fábryová, L., Belošovičová, M., Kováč, G., Šebová, C., Rajecová, E., Stavný, J., Babjak, M., Donati, M. B., & Iacoviello, L. (2003). Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: The MEDPED Slovakia Project. Atherosclerosis Supplements, 4(3), 3-5. https://doi.org/10.1016/S1567-5688(03)00023-0